ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645427419
Gene: JAG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
424319
ClinVar RCV Id:
RCV000730936
RCV000765484
RCV000687251
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000205.1:p.Val1156Ala
CA9764206
NM_000214.3:c.3467T>C